ClinVar Miner

List of variants reported as benign for 46,XY complete gonadal dysgenesis

Included ClinVar conditions (20):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 170
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_032656.4(DHX37):c.1294-38T>C rs10773130 0.94401
NM_005921.2(MAP3K1):c.1284G>A (p.Thr428=) rs832575 0.83950
NM_005921.2(MAP3K1):c.351G>C (p.Ala117=) rs28710284 0.78277
NM_005921.2(MAP3K1):c.3190A>C (p.Arg1064=) rs832583 0.77675
NM_005921.2(MAP3K1):c.2716G>A (p.Val906Ile) rs832582 0.77671
NM_012082.4(ZFPM2):c.302-13C>T rs3735953 0.68152
NM_005921.2(MAP3K1):c.483-11C>A rs832567 0.66503
NM_005921.2(MAP3K1):c.2416G>A (p.Asp806Asn) rs702689 0.61396
NM_032656.4(DHX37):c.2579-7T>C rs4606565 0.56718
NM_032656.4(DHX37):c.2695+12T>C rs12367953 0.56686
NM_032656.4(DHX37):c.2793A>G (p.Ala931=) rs4429156 0.56645
NM_032656.4(DHX37):c.2605A>G (p.Ser869Gly) rs4516060 0.56530
NM_032656.4(DHX37):c.2598G>A (p.Glu866=) rs4258464 0.56360
NM_032656.4(DHX37):c.3242G>A (p.Arg1081Gln) rs4447263 0.55494
NM_012082.4(ZFPM2):c.532+28227T>C rs2218279 0.51867
NM_032656.4(DHX37):c.2869-38G>A rs10773125 0.50743
NM_032656.4(DHX37):c.2046-6A>G rs4765007 0.50353
NM_032656.4(DHX37):c.738+13G>A rs4072887 0.39088
NM_032656.4(DHX37):c.288G>A (p.Met96Ile) rs11558556 0.36027
NM_000475.5(NR0B1):c.498G>A (p.Arg166=) rs2269345 0.28771
NM_032656.4(DHX37):c.2578+17T>G rs11831506 0.27400
NM_032656.4(DHX37):c.2696-26G>A rs6488959 0.25621
NM_032656.4(DHX37):c.3195C>T (p.Ala1065=) rs4078216 0.20190
NM_012082.4(ZFPM2):c.1208C>G (p.Ala403Gly) rs11993776 0.18341
NM_001393392.1(AKR1C2):c.441A>G (p.Thr147=) rs3207909 0.15144
NM_000475.5(NR0B1):c.114C>T (p.Cys38=) rs6150 0.14452
NM_012082.4(ZFPM2):c.3207C>T (p.His1069=) rs11995760 0.11999
NM_012082.4(ZFPM2):c.1362A>G (p.Pro454=) rs920628 0.11991
NM_005921.2(MAP3K1):c.3820-11A>G rs3736430 0.11208
NM_005921.2(MAP3K1):c.3667-13G>A rs16886463 0.08897
NM_012082.4(ZFPM2):c.2346G>C (p.Glu782Asp) rs2920048 0.08600
NM_005921.2(MAP3K1):c.3084A>G (p.Gln1028=) rs3822625 0.07871
NM_012082.4(ZFPM2):c.3164C>T (p.Ala1055Val) rs16873741 0.06184
NM_012082.4(ZFPM2):c.1776T>C (p.Pro592=) rs16873732 0.05790
NM_005921.2(MAP3K1):c.482+10462A>G rs16886364 0.05783
NM_012082.4(ZFPM2):c.2976T>C (p.Tyr992=) rs1442320 0.05781
NM_005921.2(MAP3K1):c.483-18151A>G rs16886397 0.05776
NM_005921.2(MAP3K1):c.1687-46C>G rs16886448 0.05775
NM_012082.4(ZFPM2):c.2385C>G (p.Val795=) rs35998713 0.04956
NM_012082.4(ZFPM2):c.1969A>G (p.Ser657Gly) rs28374544 0.04474
NM_005921.2(MAP3K1):c.1566C>T (p.Thr522=) rs2229882 0.04382
NM_021044.4(DHH):c.-255T>C rs59178045 0.03594
NM_021044.4(DHH):c.*87G>T rs75012285 0.03268
NM_005921.2(MAP3K1):c.2816C>G (p.Ser939Cys) rs45556841 0.02871
NM_005921.2(MAP3K1):c.764A>G (p.Asn255Ser) rs56069227 0.02325
NM_005921.2(MAP3K1):c.165G>A (p.Ala55=) rs189140884 0.02295
NM_005921.2(MAP3K1):c.1644A>G (p.Gln548=) rs56225368 0.02279
NM_005921.2(MAP3K1):c.45G>A (p.Pro15=) rs192120973 0.02279
NM_012082.4(ZFPM2):c.3369A>G (p.Leu1123=) rs16873744 0.01580
NM_021044.4(DHH):c.-18C>T rs112818602 0.00944
NM_005921.2(MAP3K1):c.81C>T (p.Gly27=) rs185050655 0.00789
NM_005921.2(MAP3K1):c.2953_2955del (p.Thr985del) rs140733770 0.00788
NM_021044.4(DHH):c.543C>T (p.His181=) rs117527954 0.00783
NM_005921.2(MAP3K1):c.1917G>A (p.Leu639=) rs2229883 0.00772
NM_012082.4(ZFPM2):c.40+12C>G rs149902904 0.00711
NM_012082.4(ZFPM2):c.2665C>G (p.Gln889Glu) rs146423225 0.00541
NM_005921.2(MAP3K1):c.720G>A (p.Ala240=) rs56279792 0.00530
NM_000475.5(NR0B1):c.1029G>A (p.Leu343=) rs112775648 0.00406
NM_005921.2(MAP3K1):c.3087C>T (p.Phe1029=) rs146112116 0.00373
NM_005921.2(MAP3K1):c.3588A>C (p.Ser1196=) rs55912465 0.00351
NM_005921.2(MAP3K1):c.834+9A>G rs73135067 0.00344
NM_012082.4(ZFPM2):c.2287G>A (p.Val763Ile) rs117908591 0.00328
NM_012082.4(ZFPM2):c.292G>A (p.Asp98Asn) rs202217256 0.00311
NM_012082.4(ZFPM2):c.1632G>A (p.Met544Ile) rs187043152 0.00306
NM_012082.4(ZFPM2):c.533-4A>T rs138466839 0.00296
NM_012082.4(ZFPM2):c.89A>G (p.Glu30Gly) rs121908601 0.00293
NM_012082.4(ZFPM2):c.1276G>A (p.Ala426Thr) rs35843564 0.00290
NM_005921.2(MAP3K1):c.2886C>G (p.Pro962=) rs201198197 0.00284
NM_012082.4(ZFPM2):c.629G>C (p.Ser210Thr) rs182216711 0.00279
NM_005921.2(MAP3K1):c.2179+16T>G rs201491763 0.00271
NM_012082.4(ZFPM2):c.2501A>G (p.Lys834Arg) rs113289249 0.00241
NM_000475.5(NR0B1):c.588G>A (p.Leu196=) rs138855021 0.00231
NM_021044.4(DHH):c.188C>G (p.Ala63Gly) rs142269288 0.00217
NM_000475.5(NR0B1):c.870C>T (p.Cys290=) rs137987391 0.00168
NM_012082.4(ZFPM2):c.739+19G>A rs140283741 0.00160
NM_005921.2(MAP3K1):c.234C>T (p.Leu78=) rs542526689 0.00150
NM_005921.2(MAP3K1):c.233T>C (p.Leu78Pro) rs572205361 0.00149
NM_005921.2(MAP3K1):c.762C>T (p.Gly254=) rs199726815 0.00148
NM_001308093.3(GATA4):c.1040C>T (p.Ala347Val) rs115372595 0.00144
NM_005921.2(MAP3K1):c.15G>A (p.Ala5=) rs759046760 0.00141
NM_000475.5(NR0B1):c.16C>A (p.His6Asn) rs191365011 0.00118
NM_012082.4(ZFPM2):c.41-4C>A rs374926066 0.00091
NM_005921.2(MAP3K1):c.710A>G (p.Gln237Arg) rs55694258 0.00088
NM_000475.5(NR0B1):c.1410A>G (p.Ile470Met) rs151317312 0.00084
NM_012082.4(ZFPM2):c.1569G>C (p.Leu523=) rs920629 0.00079
NM_000475.5(NR0B1):c.376G>A (p.Val126Met) rs193205940 0.00068
NM_005921.2(MAP3K1):c.381G>T (p.Ser127=) rs1053991933 0.00066
NM_012082.4(ZFPM2):c.1578G>T (p.Arg526=) rs200643137 0.00066
NM_021044.4(DHH):c.228C>T (p.Asp76=) rs201597166 0.00048
NM_000475.5(NR0B1):c.600C>G (p.Cys200Trp) rs143141578 0.00039
NM_003140.3(SRY):c.465C>T (p.Ser155=) rs11575897 0.00037
NM_012082.4(ZFPM2):c.258A>G (p.Lys86=) rs200972094 0.00025
NM_012082.4(ZFPM2):c.200-8T>G rs573002259 0.00023
NM_005921.2(MAP3K1):c.3783A>G (p.Gln1261=) rs201159436 0.00021
NM_012082.4(ZFPM2):c.2107A>C (p.Met703Leu) rs121908603 0.00019
NM_012082.4(ZFPM2):c.2490A>T (p.Ile830=) rs368201603 0.00019
NM_012082.4(ZFPM2):c.3078G>A (p.Ala1026=) rs200049316 0.00019
NM_005921.2(MAP3K1):c.894A>G (p.Pro298=) rs372575885 0.00017
NM_000475.5(NR0B1):c.344T>C (p.Val115Ala) rs200436490 0.00014
NM_005921.2(MAP3K1):c.2757A>G (p.Lys919=) rs200375119 0.00014
NM_012082.4(ZFPM2):c.1015G>A (p.Val339Ile) rs201845067 0.00014
NM_021044.4(DHH):c.192G>A (p.Glu64=) rs201464596 0.00014
NM_000475.5(NR0B1):c.152G>A (p.Arg51Lys) rs770842444 0.00012
NM_000475.5(NR0B1):c.96G>C (p.Thr32=) rs752999448 0.00012
NM_005921.2(MAP3K1):c.44C>G (p.Pro15Arg) rs765282250 0.00012
NM_000475.5(NR0B1):c.545G>C (p.Gly182Ala) rs761749382 0.00011
NM_005921.2(MAP3K1):c.2665G>C (p.Val889Leu) rs56228802 0.00011
NM_005921.2(MAP3K1):c.394G>C (p.Asp132His) rs557606535 0.00011
NM_012082.4(ZFPM2):c.2430A>T (p.Pro810=) rs200002039 0.00011
NM_001308093.3(GATA4):c.1223C>A (p.Pro408Gln) rs115099192 0.00010
NM_005921.2(MAP3K1):c.3498C>T (p.Thr1166=) rs200078723 0.00010
NM_012082.4(ZFPM2):c.1003C>G (p.Leu335Val) rs376235097 0.00009
NM_005921.2(MAP3K1):c.1131A>G (p.Arg377=) rs55818365 0.00007
NM_005921.2(MAP3K1):c.304G>A (p.Gly102Arg) rs531377824 0.00006
NM_000475.5(NR0B1):c.315G>C (p.Trp105Cys) rs132630327 0.00005
NM_000475.5(NR0B1):c.379G>A (p.Ala127Thr) rs766116884 0.00005
NM_005921.2(MAP3K1):c.3667-4G>T rs552563402 0.00005
NM_000475.5(NR0B1):c.993C>T (p.Asn331=) rs767263700 0.00004
NM_005921.2(MAP3K1):c.3667-7T>C rs117348142 0.00004
NM_000475.5(NR0B1):c.1176G>A (p.Pro392=) rs778616722 0.00003
NM_001308093.3(GATA4):c.1183C>A (p.Pro395Thr) rs200319078 0.00003
NM_012082.4(ZFPM2):c.1612G>A (p.Val538Ile) rs575054307 0.00003
NM_012082.4(ZFPM2):c.421-5T>C rs552410913 0.00003
NM_000475.5(NR0B1):c.1365A>G (p.Thr455=) rs572970359 0.00001
NM_005921.2(MAP3K1):c.2588T>C (p.Val863Ala) rs563304338 0.00001
NM_005921.2(MAP3K1):c.770C>T (p.Pro257Leu) rs56160159 0.00001
NM_000475.5(NR0B1):c.1040C>A (p.Ala347Glu)
NM_000475.5(NR0B1):c.1168+10C>G
NM_000475.5(NR0B1):c.1170C>T (p.Asp390=)
NM_000475.5(NR0B1):c.1188C>T (p.Cys396=)
NM_000475.5(NR0B1):c.1359C>T (p.Ile453=)
NM_000475.5(NR0B1):c.162G>C (p.Leu54=)
NM_000475.5(NR0B1):c.174G>A (p.Arg58=)
NM_000475.5(NR0B1):c.255G>A (p.Thr85=)
NM_000475.5(NR0B1):c.353C>T (p.Ala118Val)
NM_000475.5(NR0B1):c.543A>C (p.Pro181=)
NM_000475.5(NR0B1):c.725C>T (p.Ala242Val)
NM_000475.5(NR0B1):c.740C>T (p.Ala247Val)
NM_000475.5(NR0B1):c.744C>G (p.Leu248=)
NM_000475.5(NR0B1):c.759G>C (p.Val253=)
NM_000475.5(NR0B1):c.798G>C (p.Leu266=)
NM_000475.5(NR0B1):c.973C>T (p.Arg325Trp)
NM_000475.5(NR0B1):c.979G>A (p.Glu327Lys)
NM_000475.5(NR0B1):c.984C>G (p.Thr328=)
NM_000475.5(NR0B1):c.994G>C (p.Glu332Gln)
NM_005921.2(MAP3K1):c.2013G>A (p.Ala671=)
NM_005921.2(MAP3K1):c.228G>C (p.Gln76His)
NM_005921.2(MAP3K1):c.233_234delinsCT (p.Leu78Pro) rs1554028405
NM_005921.2(MAP3K1):c.2824ACA[7] (p.Thr949del) rs5868032
NM_005921.2(MAP3K1):c.2864T>C (p.Met955Thr)
NM_005921.2(MAP3K1):c.293C>G (p.Ala98Gly)
NM_005921.2(MAP3K1):c.4074G>A (p.Ser1358=)
NM_005921.2(MAP3K1):c.4278T>C (p.Tyr1426=) rs547649904
NM_005921.2(MAP3K1):c.4416G>T (p.Ser1472=) rs201067455
NM_005921.2(MAP3K1):c.476C>T (p.Pro159Leu)
NM_005921.2(MAP3K1):c.5CGG[5] (p.Ala5dup) rs779149827
NM_005921.2(MAP3K1):c.633+815T>C rs1017226
NM_005921.2(MAP3K1):c.835-11dup rs201780112
NM_012082.4(ZFPM2):c.1255G>A (p.Glu419Lys) rs374581095
NM_012082.4(ZFPM2):c.1770G>C (p.Lys590Asn) rs533177469
NM_012082.4(ZFPM2):c.1818_1820del (p.Leu607del) rs763555819
NM_012082.4(ZFPM2):c.191G>A (p.Cys64Tyr)
NM_012082.4(ZFPM2):c.2097C>T (p.His699=) rs139368368
NM_012082.4(ZFPM2):c.3393T>G (p.Leu1131=)
NM_012082.4(ZFPM2):c.41-10C>G
NM_012082.4(ZFPM2):c.965-11T>C rs189501457
NM_012082.4(ZFPM2):c.965-9TC[2] rs147661076
NM_021044.4(DHH):c.25C>G (p.Pro9Ala)
NM_021044.4(DHH):c.303+16C>G
NM_032656.4(DHX37):c.2331A>G (p.Thr777=) rs10773127

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.